Varaico: Literature-Extracted Genetic Variants

Gene:PCCA
Variant:p.Y380*
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PCCA

NM_000282.4:p.Y380*

Associated Papers

Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.

Li S et al.

Biomolecules, 2023

37371567 (PubMed )
Supplement: biomolecules-13-00988-s001.zip › biomolecules-2391899-supplementary.xlsx › Sheet1

Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Michorowska S

Pharmaceuticals (basel, Switzerland), 2021

Propionyl-CoA carboxylase - A review.

Wongkittichote P et al.

Molecular Genetics and Metabolism, 2017

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.

Sánchez-Alcudia R et al.

Human Mutation, 2012

Mutation analysis in 54 propionic acidemia patients.

Kraus JP et al.

Journal of Inherited Metabolic Disease, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."